Association of single nucleotide polymorphism variations in CRYAA and CRYAB genes with congenital cataract in Pakistani population

BACKGROUND: The purpose of present study was to analyze the association of single nucleotide polymorphism (SNPs) variant in CRYAA and CRYAB genes with Congenital Cataract. METHOD: Total 196 blood samples of children were collected, out of which 102 samples were congenital cataract (case group) and 94 samples were normal individuals (control group). Genomic DNA was extracted by using optimized inorganic method. Tetra primers for SNPs were designed and TETRA-ARMs assay was performed on both groups. Genotypic, allelic frequency and haplotype analyses were obtained by using SNPstats software. RESULTS: The coordination of genotypic and allelic frequencies of CRYAA and CRYAB genes variants and the association between case and control groups showed increased risk of congenital cataract in children who contained rs13053109 G > C variant of CRYAA in all models (all P > 0.05). This depicts the evident difference between the frequencies of case and control groups. The haplotype analysis of SNPs rs3761382, rs7278468 and rs13051039 of CRYAA gene showed weak linkage disequilibrium between the 3 SNPs (r(2) < 0.8). The haplotype CTC indicated the high risk of congenital cataract in infants based of its p value (OR = 1.60 95% CI = 0.11–22.64, P > 0.05). CONCLUSION: The variation in CRYAA gene can be the risk factor for congenital cataract in infants.